An Efficient, Accurate, Powerful, and Cost-Effective Genetic Genealogical Discovery System

Technology #34368

Key Points

  • Provides genealogical indexing that identifies all long Identical-by-Descent (IBD) segments between a query and a panel, independent of the number of haplotypes, to identify ancestral relationships
  • Supports dynamic updates

Abstract

The University of Central Florida and the University of Texas Health Science Center have developed technologies for genetic genealogical discovery in genotype databases:

  • A system for indexing, updating, and searching haplotypes for genetic genealogical discovery in genotype databases. The system includes a pool of genetic indexes, a haplotype ingestion engine, and a haplotype query engine. The haplotypes of a number of individuals in a genotype database are indexed by a pool of multiple panels, and each panel pool can be dynamically updated by inserting or deleting individual haplotypes.
  • Random Projection for IBD Detection (RaPID) is an efficient method for detecting Identical-by-Descent (IBD) segments in a panel with phased haplotypes. While genetic relatedness, usually manifested as segments IBD, is ubiquitous in modern large biobanks, current IBD detection methods are not efficient at such a scale. RaPID achieves a time and space complexity linear to the input size and the number of reported IBDs. With simulation, the researchers showed that RaPID is orders of magnitude faster than existing methods, while offering competitive power and accuracy. In UK Biobank, RaPID identified 3,335,807 >10cM IBDs among 223,507 male X-chromosomes in 11 minutes on a single core.

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